Identification of two new mutations in the TAT gene in a Danish family with tyrosinaemia type II.
Pasternack
S M
SM
Institute of Human Genetics, University of Bonn, Bonn, Germany.
Betz
R C
RC
Brandrup
F
F
Gade
E F
EF
Clemmensen
O
O
Lund
A M
AM
Christensen
E
E
Bygum
A
A
D000328:Adult; D004252:DNA Mutational Analysis / Q000379:methods; D015785:Eye Diseases, Hereditary / Q000235:genetics; D005260:Female; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics; D009154:Mutation; D010375:Pedigree; D012873:Skin Diseases, Genetic / Q000235:genetics*; D014444:Tyrosine Transaminase / Q000235:genetics*; D020176:Tyrosinemias / Q000235:genetics*
D014444:Tyrosine Transaminase